MCID: HYP652
MIFTS: 23

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

MalaCards integrated aliases for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

Name: Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 54 71
Glomerulonephritis with Sparse Hair and Telangiectases 50 71 29
Telangiectatic Membranoproliferative Glomerulonephritis 50 71
Glomerulonephritis Sparse Hair Telangiectases 69
Hltrs 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset at birth
three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)


HPO:

32
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome:
Onset and clinical course progressive congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

OMIM : 54
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015). (137940)

MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as glomerulonephritis with sparse hair and telangiectases, is related to hypotrichosis-lymphedema-telangiectasia syndrome, and has symptoms including sparse scalp hair, alopecia and epidermal hyperkeratosis. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome is SOX18 (SRY-Box 18). Affiliated tissues include kidney, skin and testis.

UniProtKB/Swiss-Prot : 71 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome: A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease.

Related Diseases for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Diseases related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypotrichosis-lymphedema-telangiectasia syndrome 11.4

Symptoms & Phenotypes for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
thrombotic microangiopathy
renal failure, progressive
membranoproliferative glomerulonephritis

Head And Neck- Nose:
broad nasal root
high nasal bridge
long nose

Head And Neck- Mouth:
full lips

Muscle Soft Tissue:
decreased subcutaneous fat

Genitourinary- External Genitalia Male:
hydrocele
scrotal edema

Neurologic- Central Nervous System:
delayed development, mild (1 patient)

Head And Neck- Eyes:
epicanthal folds
absent eyelashes
puffy eyelids
absent eyebrows

Skin Nails & Hair- Hair:
alopecia
sparse hair
absent eyelashes
hypotrichosis
absent eyebrows

Head And Neck- Face:
prognathism
oval face

Skin Nails & Hair- Skin:
telangiectasia
freckling in a butterfly pattern on the face

Respiratory- Lung:
pulmonary lymphangiectasia (1 affected fetus)

Prenatal Manifestations:
nonimmune fetal hydrops (1 patient)


Clinical features from OMIM:

137940

Human phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 sparse scalp hair 32 hallmark (90%) HP:0002209
2 alopecia 32 hallmark (90%) HP:0001596
3 epidermal hyperkeratosis 32 HP:0007543
4 cutis marmorata 32 frequent (33%) HP:0000965
5 wide nasal bridge 32 HP:0000431
6 long nose 32 HP:0003189
7 absent eyelashes 32 hallmark (90%) HP:0000561
8 hydrocele testis 32 frequent (33%) HP:0000034
9 sparse eyelashes 32 HP:0000653
10 hydrops fetalis 32 occasional (7.5%) HP:0001789
11 epicanthus 32 HP:0000286
12 ascites 32 occasional (7.5%) HP:0001541
13 hypotrichosis 32 HP:0001006
14 prominent nasal bridge 32 HP:0000426
15 chronic kidney disease 32 HP:0012622
16 oval face 32 HP:0000300
17 sparse body hair 32 hallmark (90%) HP:0002231
18 pleural effusion 32 occasional (7.5%) HP:0002202
19 pulmonary lymphangiectasia 32 HP:0006521
20 lymphedema 32 HP:0001004
21 membranoproliferative glomerulonephritis 32 HP:0000793
22 palpebral edema 32 frequent (33%) HP:0100540
23 mandibular prognathia 32 HP:0000303
24 thick vermilion border 32 HP:0012471
25 abnormality of the lymphatic system 32 hallmark (90%) HP:0100763
26 facial telangiectasia in butterfly midface distribution 32 HP:0005598
27 absent eyebrow 32 hallmark (90%) HP:0002223
28 dermal atrophy 32 occasional (7.5%) HP:0004334
29 predominantly lower limb lymphedema 32 hallmark (90%) HP:0003550
30 reduced subcutaneous adipose tissue 32 HP:0003758
31 sparse and thin eyebrow 32 HP:0000535
32 telangiectasia of extensor surfaces 32 HP:0007621
33 telangiectasia of the skin 32 hallmark (90%) HP:0100585

UMLS symptoms related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:


swelling of eyelid

Drugs & Therapeutics for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genetic Tests for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genetic tests related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

id Genetic test Affiliating Genes
1 Glomerulonephritis with Sparse Hair and Telangiectases 29

Anatomical Context for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

MalaCards organs/tissues related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

39
Kidney, Skin, Testis

Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

ClinVar genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SOX18 NM_018419.2(SOX18): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs74315430 GRCh37 Chromosome 20, 62679954: 62679954

Expression for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Search GEO for disease gene expression data for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome.

Pathways for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

GO Terms for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Sources for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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